NM_000402.4(G6PD):c.944G>A (p.Arg315His) AND G6PD deficiency

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 28, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000011080.3

Allele description [Variation Report for NM_000402.4(G6PD):c.944G>A (p.Arg315His)]

NM_000402.4(G6PD):c.944G>A (p.Arg315His)

Gene:

G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000402.4(G6PD):c.944G>A (p.Arg315His)

Other names:

G6PD Montalbano

HGVS:

NC_000023.11:g.154533586C>T
NG_009015.2:g.18987G>A
NM_000402.4:c.944G>A
NM_001042351.3:c.854G>A
NM_001360016.2:c.854G>AMANE SELECT
NP_000393.4:p.Arg315His
NP_001035810.1:p.Arg285His
NP_001346945.1:p.Arg285His
NC_000023.10:g.153761801C>T
NM_001042351.1:c.854G>A
NM_001042351.3:c.854G>A

Protein change:

R285H; ARG285HIS

Links:

OMIM: 305900.0016; dbSNP: rs74575103

NCBI 1000 Genomes Browser:

rs74575103

Molecular consequence:

NM_000402.4:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.854G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.854G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: G6PD deficiency
Synonyms:: Glucose 6 phosphate dehydrogenase deficiency; G6PD A-
Identifiers:: MONDO: MONDO:0005775; MedGen: C2939465

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031307	OMIM	no assertion criteria provided	Benign (Aug 28, 2014)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 2321910, 2253938

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031307

OMIM

no assertion criteria provided

Benign
(Aug 28, 2014)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization.

Viglietto G, Montanaro V, Calabrò V, Vallone D, D'Urso M, Persico MG, Battistuzzi G.

Ann Hum Genet. 1990 Jan;54(1):1-15.

PubMed [citation]

PMID:: 2321910

Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district.

Calabrò V, Giacobbe A, Vallone D, Montanaro V, Cascone A, Filosa S, Battistuzzi G.

Hum Genet. 1990 Nov;86(1):49-53.

PubMed [citation]

PMID:: 2253938

Details of each submission

From OMIM, SCV000031307.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Viglietto et al. (1990) found a new variant with nearly normal properties, due to a G-to-A transition that caused an arginine-to-histidine substitution at position 285. See Calabro et al. (1990).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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